Canonical Allele Identifier: CA507503592

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41206272C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700367C>G , CM000681.2:g.40700367C>G	GRCh38
NC_000019.9:g.41206272C>G , CM000681.1:g.41206272C>G	GRCh37
NC_000019.8:g.45898112C>G	NCBI36
NG_027800.1:g.21519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.978G>C MANE Select	ENSP00000315118.3:p.Leu326=
ENST00000593724.2:n.2801G>C
ENST00000594490.6:c.900G>C	ENSP00000471310.2:p.Leu300=
ENST00000594720.6:c.978G>C	ENSP00000470876.2:p.Leu326=
ENST00000596455.6:n.1270G>C
ENST00000601967.6:c.978G>C	ENSP00000470916.2:p.Leu326=
ENST00000676555.1:c.978G>C	ENSP00000503387.1:p.Leu326=
ENST00000676578.1:c.*720G>C	ENSP00000504076.1:n.*720G>C
ENST00000676960.1:n.1103G>C
ENST00000676962.1:n.1257G>C
ENST00000677018.1:c.978G>C	ENSP00000503480.1:p.Leu326=
ENST00000677039.1:n.3181G>C
ENST00000677399.1:n.1420G>C
ENST00000677496.1:c.651G>C	ENSP00000504773.1:p.Leu217=
ENST00000677517.1:c.651G>C	ENSP00000503519.1:p.Leu217=
ENST00000677633.1:c.*401G>C	ENSP00000503645.1:n.*401G>C
ENST00000677800.1:c.*4082G>C	ENSP00000503794.1:n.*4082G>C
ENST00000678057.1:c.*542G>C	ENSP00000503762.1:n.*542G>C
ENST00000678119.1:n.1172G>C
ENST00000678166.1:n.1121G>C
ENST00000678312.1:n.1315G>C
ENST00000678316.1:c.*401G>C	ENSP00000504112.1:n.*401G>C
ENST00000678371.1:n.1428G>C
ENST00000678404.1:c.978G>C	ENSP00000503944.1:p.Leu326=
ENST00000678419.1:c.978G>C	ENSP00000504085.1:p.Leu326=
ENST00000678433.1:n.1334G>C
ENST00000678467.1:c.978G>C	ENSP00000504072.1:p.Leu326=
ENST00000678569.1:c.974G>C	ENSP00000504261.1:p.Trp325Ser
ENST00000678961.1:n.1333G>C
ENST00000679002.1:n.1157G>C
ENST00000679012.1:c.534G>C	ENSP00000504446.1:p.Leu178=
ENST00000679070.1:c.*397G>C	ENSP00000503759.1:n.*397G>C
ENST00000679130.1:c.978G>C	ENSP00000504845.1:p.Leu326=
ENST00000679315.1:c.*808G>C	ENSP00000503065.1:n.*808G>C
ENST00000243583.10:c.855G>C	ENSP00000243583.5:p.Leu285=
ENST00000324464.7:c.978G>C	ENSP00000315118.3:p.Leu326=
ENST00000593724.1:n.1093G>C
NM_001142555.2:c.855G>C	NP_001136027.1:p.Leu285=
NM_024876.3:c.978G>C	NP_079152.3:p.Leu326=
XM_005259270.3:c.1140G>C	XP_005259327.2:p.Leu380=
XM_005259271.3:c.978G>C	XP_005259328.1:p.Leu326=
XM_005259272.3:c.978G>C	XP_005259329.1:p.Leu326=
XM_005259273.3:c.978G>C	XP_005259330.1:p.Leu326=
XM_006723392.2:c.978G>C	XP_006723455.1:p.Leu326=
XM_006723393.2:c.978G>C	XP_006723456.1:p.Leu326=
XM_011527334.1:c.978G>C	XP_011525636.1:p.Leu326=
XM_011527335.1:c.837G>C	XP_011525637.1:p.Leu279=
XM_011527336.1:c.1008G>C	XP_011525638.1:p.Leu336=
XM_011527337.1:c.978G>C	XP_011525639.1:p.Leu326=
XM_011527338.1:c.978G>C	XP_011525640.1:p.Leu326=
NM_024876.4:c.978G>C MANE Select	NP_079152.3:p.Leu326=
NM_001142555.3:c.855G>C	NP_001136027.1:p.Leu285=